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Article

Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder.

Pediatric research - 1 Aug 2005

Hashimoto Kazuyuki, Kato Zenichiro, Nagase Tomoko, Shimozawa Nobuyuki, Kuwata Kazuo, Omoya Kentaro, Li Ailian, Matsukuma Eiji, Yamamoto Yutaka, Ohnishi Hidenori, Tochio Hidehito, Shirakawa Masahiro, Suzuki Yasuyuki, Wanders Ronald J A, Kondo Naomi

Abstract excerpt

Peroxisomal biogenesis disorders include Zellweger syndrome and milder phenotypes, such as neonatal adrenoleukodystrophy (NALD). Our previous study of a NALD patient with a marked deterioration by a fever revealed a mutation (Ile326Thr) within a SH3 domain of PEX13 protein (Pex13p), showing a temperature-sensitive (TS) phenotype in peroxisomal biogenesis. Clinical TS phenotypes also have been reported in several...

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Source

Identifiers

PMID: 16006427
DOI: 10.1203/01.PDR.0000169984.89199.69

Genes

PEX13

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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